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Monogenetic Diseases

 
Disease Gene Protein Product
Achondroplasia FGFR3 Fibroblast growth factor receptor 3
Adrenoleukodystrophy ABCD1 ATP-binding cassette (ABC) transporters
Alpha-1-antitrypsin deficiency SERPINA1 Serine protease inhibitor
Alport syndrome COL4A5 Collagen, type IV, alpha 5
Amyotrophic lateral sclerosis SOD1 Superoxide dismutase 1
Angelman syndrome UBE3A Ubiquitin protein ligase E3A
Ataxia telangiectasia ATM Ataxia telangiectasia mutated
Autoimmune polyglandular syndrome AIRE Autoimmune regulator
Burkitt lymphoma MYC v-myc myelocytomatosis viral oncogene homolog
Congenital adrenal hyperplasia CYP21 cytochrome P450, family 21
Cystic fibrosis CFTR Cystic fibrosis transmembrane conductance regulator
Diastrophic dysplasia SLC26A2 Sulfate transporter
Duchenne muscular dystrophy DMD Dystrophin
Ellis-van Creveld syndrome EVC EVC Protein
Familial Mediterranean fever MEFV Mediterranean fever protein
Fragile X syndrome FMR1 Fragile X mental retardation 1
Friedreich's ataxia FRDA Frataxin
Gaucher disease GBA Glucosidase
Glucose galactose malabsorption SGLT1 Sodium/glucose cotransporter
Gyrate atrophy OAT Ornithine aminotransferase
Hemophilia A F8 Coagulation factor VIII
Hereditary hemochromatosis HFE Hemochromatosis protein
Huntington disease HD Huntingtin
Immunodeficiency with hyper-IgM TNFSF5 Tumor necrosis factor member 5
Lesch-Nyhan syndrome HPRT1 Hypoxanthine phosphoribosyltransferase 1
Maple syrup urine disease BCKDHA Branched chain keto acid dehydrogenase
Marfan syndrome FBN1 Fibrillin
Menkes syndrome ATP7A ATPase, Cu++ transporting
Myotonic dystrophy DMPK Myotonic dystrophy protein kinase
Neurofibromatosis NF1, NF2 Neurofibromin
Paroxysmal nocturnal hemoglobinuria PIGA Phosphatidylinositol glycan
Pendred syndrome PDS Pendrin
Phenylketonuria PAH Phenylalanine hydroxylase
Refsum disease PHYH Phytanoyl-CoA hydroxylase
Retinoblastoma RB Retinoblastoma 1
Rett syndrome MECP2 Methyl CpG binding protein
SCID-ADA ADA Adenosine deaminase
SCID-X-linked IL2RG Interleukin-2 receptor, gamma
Sickle cell anemia HBB Hemoglobin, beta
Spinal muscular atrophy SMN1 Survival of motor neuron 1
Spinocerebellar ataxia SCA1 Ataxin 1
Tangier disease ABCA1 ATP-binding cassette A1
Tay-Sachs disease HEXA Hexosaminidase
Thalassemia HBA 1&2 Hemoglobin alpha 1 & 2
Von Hippel-Lindau syndrome VHL Elongin binding protein
Werner syndrome WRN Werner syndrome protein
Wilson's disease ATP7B ATPase, Cu++ transporting
Zellweger syndrome PXR1 Peroxisome receptor 1

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Cystic Fibrosis